Evidence map›Paper›PMID 28830496›Full record

ArticleOrphanet journal of rare diseases2017

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

E De Wachter, M Thomas, S S Wanyama, S Seneca, A Malfroot

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Special Issue "Research Advances on Cystic Fibrosis and CFTR Protein".International journal of molecular sciences · 2025
    Article
  2. Article
  3. Article
  4. Article
  5. Observational
  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

E De WachterCF Clinic, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium. elke.dewachter@uzbrussel.be.
M ThomasBelgian CF Registry, Scientific Institute of Public Health (WIV-ISP), Brussels, Belgium.
S S WanyamaBelgian CF Registry, Scientific Institute of Public Health (WIV-ISP), Brussels, Belgium.
S SenecaDepartment for Reproduction and Genetics, Centre of Medical Genetics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
A MalfrootCF Clinic, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Laarbeeklaan 101, 1090, Brussels, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCFTR2 provides clinical and functional information of the most common CFTR-mutations. Rare mutations (RMs) occur in only a few patients with limited reported clinical data. Their role in CF-disease liability is hardly documented.

methodsBelgian CF-Registry 2013 data were analyzed to identify CF with at least 1 RM (CF

resultsSeventy-seven CF

conclusionsCF-patients with a RM cover 6.5% of the Belgian CF-population. Rare mutations can be found in severely ill patients, but more often in late diagnosed, pancreatic sufficient patients.

Indexed as

Anti-Bacterial AgentsBelgiumCystic Fibrosis Transmembrane Conductance RegulatorFemaleGenotypeHumansMaleMutationPancreasPhenotypePseudomonas aeruginosaAnti-Bacterial AgentsCystic Fibrosis Transmembrane Conductance RegulatorCF-registry studyCystic fibrosisDisease liabilityGenotype-phenotype correlationRare CFTR-mutations

Identifiers

PMID28830496
PMCPMC5567473

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.